A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229585



Internal ID22371390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:113838438..113878721hg38UCSC Ensembl
Outerchr11:113709160..113749443hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3840284
hg1940284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253553, nssv14253554
SamplesHG00732, HG00733
Known GenesUSP28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229585
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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